Daily living scale study participation

The Rare Diseases Clinical Research Network or RDCRN is a US organisation designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.  https://www.rarediseasesnetwork.org/whoweare/index.htm. 

Within this there are a number of rare disease research groups, including CReATe - Clinical Research in ALS and Related Disorders for Therapeutic Development. This group includes:

• sporadic and familial forms of amyotrophic lateral sclerosis (ALS), 

• frontotemporal dementia (FTD), 

• primary lateral sclerosis (PLS), 

• hereditary spastic paraplegia (HSP), and 

• progressive muscular atrophy (PMA). 

The goals of the CReATe consortium are to advance therapeutic development for this group of neurodegenerative disorders through study of the relationship between clinical phenotype and underlying genotype, and also through the discovery and development of biomarkers. https://www.rarediseasesnetwork.org/cms/create


One of their current projects is to develop A Patient Centric Motor Neuron Disease Activities of Daily Living Scale for all of their diseases.

The text below is from their website, describing the study. If you have HSP (or one of the other diseases) you can take part. You answer a monthly questionnaire by email for a year, taking 10-20 mins each time. If you want to take part, sign up! I've done this.

Study Summary

The purpose of this study is to learn about rates of disease progression in patients with motor neuron diseases, as reported by the patients while they are outside of clinic. Another purpose of this study is to learn about clinical characteristics that patients report influence this rate of progression.

Background

1. What is the feasibility, ease of use, and rates of MND progression of a new patient-reported cactivities of daily living scale (PADL-ALS)?

1. Can patient-reported clinical features predict disease progression using the PADL-ALS?

1. How will rates of progression seen using the PADL-ALS compare to previously reported disease progression models described for the ALSFRS-R?

About This StudyTargeted Enrollment

Be an individual with one of the following:

• ALS (Amyotrophic Lateral Sclerosis)

• ALS-FTD (Amyotrophic Lateral Sclerosis - Frontotemporal Dementia)

• PLS (Primary Lateral Sclerosis)

• PMA (Progressive Muscular Atrophy)

• HSP (Hereditary Spastic Paraplegia)

or

• Other motor neuron disease

You cannot provide informed consent and complete survey

How to participate:

Functional rating scales have become the standard primary outcome measure for clinical trials of neurodegenerative diseases. The ALS Functional Rating Scale-Revised (ALSFRS-R) was designed to assess the ability of ALS patients to perform activities of daily living and to detect functional changes during clinical trials. The ALSFRS-R is quickly administered by research personnel or study staff (ten minutes) and is a rating scale that assesses capability and independence in 12 functional activities. The ability to use a patient-reported tool like the ALSFRS-R to assess patient function between clinic visits from the home would be a powerful new tool for clinicians to monitor the effect of interventions including: medications, orthotic devices, and respiratory or feeding support. In addition, the usefulness of a scale like the ALSFRS-R in the full range of MND is not known. We developed a new patient-reported survey which incorporates many of the key elements of the ALSFRS to be used by MND patients in between patient visits.

 The research questions are:

1. What is the feasibility, ease of use, and rates of MND progression of a new patient-reported cactivities of daily living scale (PADL-ALS)?
2. Can patient-reported clinical features predict disease progression using the PADL-ALS?
3. How will rates of progression seen using the PADL-ALS compare to previously reported disease progression models described for the ALSFRS-R?

About This Study

This is a prospective 12-month study of patients with MND enrolled in CReATe Connect, an RDCRN Contact Registry. Participants will be asked to complete the survey every month for 1 year.

The survey will contain questions about participants’ diagnosis (such as age when symptoms started, where first symptoms occurred) and functional status (things like walking, eating, dressing, breathing). We will ask participants to update their functional status survey (15 questions) monthly for 1 year. Participants may choose to skip any question(s) that make them feel uncomfortable. It should take approximately 20 minutes to complete the survey the first time, then 10-15 minutes for each follow up survey.

Targeted Enrollment

To be eligible to participate, you must:

• Be an individual with one of the following:
  • ALS (Amyotrophic Lateral Sclerosis)
  • ALS-FTD (Amyotrophic Lateral Sclerosis - Frontotemporal Dementia)
  • PLS (Primary Lateral Sclerosis)
  • PMA (Progressive Muscular Atrophy)
  • HSP (Hereditary Spastic Paraplegia)
or
• • Other motor neuron disease

You are not eligible to participate if:

• You cannot provide informed consent and complete survey

How to participate:

If you have not done so already, please join CReATe Connect, a Contact Registry that has been established through the RDCRN! We will invite individuals in CReATe Connect to participate in this study.